Mutations of ephrin-B1 (<i>EFNB1</i>), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typ... View More